Linked Data
dbSNP Id:
rs752061988
ExAC:
1:196712607 A / G
gnomAD v2:
1-196712607-A-G
gnomAD v4:
1-196743477-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196743477A>G , CM000663.2:g.196743477A>G | GRCh38 |
| NC_000001.10:g.196712607A>G , CM000663.1:g.196712607A>G | GRCh37 |
| NC_000001.9:g.194979230A>G | NCBI36 |
| NG_007259.1:g.96467A>G , LRG_47:g.96467A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470918.2:n.4187A>G | ||
| ENST00000695970.1:c.2985A>G | ENSP00000512297.1:p.Thr995= | |
| ENST00000695971.1:c.3138A>G | ENSP00000512298.1:p.Thr1046= | |
| ENST00000695972.1:c.*236A>G | ENSP00000512299.1:n.*236A>G | |
| ENST00000695973.1:c.*1523A>G | ENSP00000512300.1:n.*1523A>G | |
| ENST00000695974.1:c.2982A>G | ENSP00000512301.1:p.Thr994= | |
| ENST00000695975.1:c.*1286A>G | ENSP00000512302.1:n.*1286A>G | |
| ENST00000695976.1:c.2970A>G | ENSP00000512303.1:p.Thr990= | |
| ENST00000695981.1:c.3159A>G | ENSP00000512306.1:p.Thr1053= | |
| ENST00000695984.1:c.1167A>G | ENSP00000512309.1:p.Thr389= | |
| ENST00000695986.1:c.*2810A>G | ENSP00000512311.1:n.*2810A>G | |
| ENST00000696026.1:c.*1441A>G | ENSP00000512335.1:n.*1441A>G | |
| ENST00000696027.1:c.3153A>G | ENSP00000512336.1:p.Thr1051= | |
| ENST00000696028.1:c.3087A>G | ENSP00000512337.1:p.Thr1029= | |
| ENST00000696029.1:c.3153A>G | ENSP00000512338.1:p.Thr1051= | |
| ENST00000696031.1:c.*2677A>G | ENSP00000512340.1:n.*2677A>G | |
| ENST00000696032.1:c.3159A>G | ENSP00000512341.1:p.Thr1053= | |
| ENST00000696033.1:c.1160-36320A>G | ENSP00000512342.1:n.1160-36320A>G | |
| ENST00000367429.9:c.3159A>G MANE Select | ENSP00000356399.4:p.Thr1053= | |
| ENST00000367429.8:c.3159A>G | ENSP00000356399.4:p.Thr1053= | |
| ENST00000466229.5:n.6257A>G | ||
| NM_000186.3:c.3159A>G , LRG_47t1:c.3159A>G | NP_000177.2:p.Thr1053= | |
| XR_001737134.2:n.3345A>G | ||
| NM_000186.4:c.3159A>G MANE Select | NP_000177.2:p.Thr1053= |